Q02575 (HEN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Helix-loop-helix protein 1
Short name=HEN-1

Alternative name(s):
Class A basic helix-loop-helix protein 35
Short name=bHLHa35
Nescient helix loop helix 1
Short name=NSCL-1

Gene names

Name:	NHLH1
Synonyms:	BHLHA35, HEN1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	133 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system.
Subunit structure	Efficient DNA binding requires dimerization with another bHLH protein.
Subcellular location	Nucleus By similarity.
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
Biological process	Differentiation Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW central nervous system development Traceable author statement Ref.2. Source: ProtInc regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 133	133	Helix-loop-helix protein 1		PRO_0000127197
Regions
	Domain	75 – 127	53	bHLH
	Compositional bias	66 – 71	6	Poly-Arg

Sequences

	Sequence		Length	Mass (Da)
	Q02575 [UniParc]. Last modified July 1, 1993. Version 1. Checksum: FE90B574BE16D2C6	FASTA	133	14,618
	10 20 30 40 50 60 MMLNSDTMEL DLPPTHSETE SGFSDCGGGA GPDGAGPGGP GGGQARGPEP GEPGRKDLQH 70 80 90 100 110 120 LSREERRRRR RATAKYRTAH ATRERIRVEA FNLAFAELRK LLPTLPPDKK LSKIEILRLA 130 ICYISYLNHV LDV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"HEN1 and HEN2: a subgroup of basic helix-loop-helix genes that are coexpressed in a human neuroblastoma." Brown L., Espinosa R. III, le Beau M.M., Siciliano M.J., Baer R. Proc. Natl. Acad. Sci. U.S.A. 89:8492-8496(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Brain.
[2]	"A comparative structural characterization of the human NSCL-1 and NSCL-2 genes. Two basic helix-loop-helix genes expressed in the developing nervous system." Lipkowitz S., Gobel V., Varterasian M.L., Nakahara K., Tchorz K., Kirsch I.R. J. Biol. Chem. 267:21065-21071(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]. Tissue: Brain.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Eye.

Cross-references

Sequence databases
EMBL GenBank DDBJ	M97507 Genomic DNA. Translation: AAA58634.1. BC013789 mRNA. Translation: AAH13789.1.
IPI	IPI00026245.
PIR	A45075. B46167.
RefSeq	NP_005589.1. NM_005598.3.
UniGene	Hs.30956.
3D structure databases
ProteinModelPortal	Q02575.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q02575. 3 interactions.
STRING	9606.ENSP00000302189.
PTM databases
PhosphoSite	Q02575.
Polymorphism databases
DMDM	399885.
Proteomic databases
PRIDE	Q02575.
Protocols and materials databases
DNASU	4807.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000302101; ENSP00000302189; ENSG00000171786.
GeneID	4807.
KEGG	hsa:4807.
UCSC	uc001fwa.2. human.
Organism-specific databases
CTD	4807.
GeneCards	GC01P160336.
HGNC	HGNC:7817. NHLH1.
HPA	CAB004755. CAB033854. HPA017943.
MIM	162360. gene.
neXtProt	NX_Q02575.
PharmGKB	PA31619.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG264916.
HOGENOM	HOG000016617.
HOVERGEN	HBG016345.
InParanoid	Q02575.
KO	K09075.
OMA	MMLNSDA.
OrthoDB	EOG4KH2WQ.
PhylomeDB	Q02575.
Gene expression databases
ArrayExpress	Q02575.
Bgee	Q02575.
CleanEx	HS_NHLH1.
Genevestigator	Q02575.
GermOnline	ENSG00000171786. Homo sapiens.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. [Graphical view]
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4807.
NextBio	18524.
SOURCE	Search...

Entry information

Entry name

HEN1_HUMAN

Accession

Primary (citable) accession number: Q02575

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	July 1, 1993
Last modified:	May 1, 2013
This is version 115 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.